ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.1503C>A (p.Val501=) (rs147277075)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420165 SCV000512232 benign not specified 2016-04-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000476632 SCV000561197 benign Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 2017-11-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620374 SCV000737305 likely benign Cardiovascular phenotype 2017-09-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign

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